Abstract
Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder that is characterized by large platelets that lack α-granules. Here we show that mutations in NBEAL2 (neurobeachin-like 2), which encodes a BEACH/ARM/WD40 domain protein, cause GPS and that megakaryocytes and platelets from individuals with GPS express a unique combination of NBEAL2 transcripts. Proteomic analysis of sucrose-gradient subcellular fractions of platelets indicated that NBEAL2 localizes to the dense tubular system (endoplasmic reticulum) in platelets.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, N.I.H., Intramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Blood Platelets / metabolism*
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Blood Proteins / genetics*
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Cytoplasmic Granules / metabolism*
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Endoplasmic Reticulum / metabolism*
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Gray Platelet Syndrome / genetics*
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Humans
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Megakaryocytes / cytology
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Megakaryocytes / metabolism*
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Mutation / genetics*
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Nerve Tissue Proteins / genetics*
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Organelle Biogenesis
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Platelet Aggregation
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Protein Structure, Tertiary
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Proteomics
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Secretory Vesicles / metabolism*
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Subcellular Fractions
Substances
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Blood Proteins
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NBEAL2 protein, human
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Nerve Tissue Proteins